Gene Therapy for Inherited Retinal Dystrophy (Luxturna®)

A gene therapy called Luxturna® is a new breakthrough in care for individuals with an inherited retinal dystrophy due to two mutations in the gene RPE65. It is offered by the Division of Ophthalmology at Children’s Hospital of Philadelphia (CHOP) to children who meet certain criteria.

What are inherited retinal dystrophies?

Retinal dystrophies are a group of eye disorders characterized by the degeneration of different parts of the retina. They are genetically heterogeneous, meaning mutations in many different genes may be responsible. Determining the specific gene mutation(s) is critical to understand the range of symptoms and treatment possibilities.

What type of gene therapy is available for retinal dystrophies?

In 2017, a gene therapy called Luxturna was approved by the U.S. Food and Drug Administration for use in children and adults with retinal disease due to two mutations in the gene RPE65. As mentioned, there are many genes that can cause retinal dystrophies, but at this time treatment is only clinically available for RPE65-related disease.

Who is a candidate for gene therapy?

Children (over 12 months of age) and adults who have genetically confirmed mutations in both copies of the RPE65 gene may be candidates for gene therapy. Patients must undergo a complete clinical evaluation and testing to determine if there are enough remaining cells in the retina to receive the treatment.

How does gene therapy for inherited retinal dystrophies work?

Luxturna provides a working copy of the RPE65 gene to the retinal cells of the eye. This allows cells to make the RPE65 protein, which allows the visual cycle to continue and for light to be converted to electrical signals to be interpreted by the brain.

How is Luxturna given?

Luxturna is delivered as a subretinal injection. The procedure takes place in the operating room while the patient is under anesthesia. Patients undergo two separate procedures (one for each eye), at least one week apart. They are treated with a corticosteroid before and after each surgery.

What kind of follow-up is needed?

Luxturna is designed as a one-time therapy. Following surgery, the eye will be covered with a patch for 24-48 hours. Patients will have frequent follow-up visits with the surgeon and retinal specialist in the initial postoperative period. Patients will not be able to travel by plane right away. After cleared to travel home, patients should have follow-up visits with a retinal specialist at least once a year.

Why choose CHOP for RPE65 gene therapy?

CHOP is a designated Ocular Gene Therapy Treatment Center. CHOP co-sponsored and was the primary site of the gene therapy clinical trial, and gained early experience administering the treatment. At CHOP, your child has access to a dedicated care team, including ophthalmologists, ophthalmic geneticists, a retinal surgeon and a genetic counselor – all of whom have experience diagnosing and caring for children with inherited retinal conditions and their families. Our multidisciplinary team provides the latest treatment breakthroughs and offers exceptional support for families before, during and after treatment.

Required reports for evaluation and referral:

  • Detailed medical summary, including ophthalmology reports
  • Clinical diagnosis of retinal disease
  • Genetic test results (patient and parent test results showing biparentally inherited RPE65 mutations)


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